ZFIN is now using GRCz12tu for Genomic Data
Gene
actc1b
- ID
- ZDB-GENE-000322-1
- Name
- actin alpha cardiac muscle 1b
- Symbol
- actc1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in cytoskeleton organization. Predicted to be located in cytoskeleton. Predicted to be active in actin cytoskeleton. Is expressed in several structures, including EVL; mesoderm; musculature system; pericardial region; and trunk. Used to study nemaline myopathy. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated cardiomyopathy; dilated cardiomyopathy 1R; and hypertrophic cardiomyopathy 11. Orthologous to human ACTC1 (actin alpha cardiac muscle 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 36 figures from 20 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55618 (11 images)
- eu184 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| atrial heart septal defect 5 | Alliance | Atrial septal defect 5 | 612794 |
| dilated cardiomyopathy 1R | Alliance | Cardiomyopathy, dilated, 1R | 613424 |
| dilated cardiomyopathy 1R | Alliance | Left ventricular noncompaction 4 | 613424 |
| hypertrophic cardiomyopathy 11 | Alliance | Cardiomyopathy, hypertrophic, 11 | 612098 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| nemaline myopathy | WT + MO1-actc1b | standard conditions | Sztal et al., 2015 |
| nemaline myopathy | WT + MO2-actc1b | standard conditions | Sztal et al., 2015 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q9I8V1 | InterPro | 377 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
actc1b-201
(1)
|
Ensembl | 1,246 nt | ||
| mRNA |
actc1b-202
(1)
|
Ensembl | 1,772 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers